Interstitial duplication of 8q22.1-q23.1- A case report and review of the literature

Steven Leary; Harry S Porterfield; Jaclyn R Kotlarek; Benjamin W Darbro; Alpa Sidhu

doi:10.1002/ccr3.2507

Interstitial duplication of 8q22.1-q23.1- A case report and review of the literature

Clin Case Rep. 2019 Oct 24;7(12):2393-2397. doi: 10.1002/ccr3.2507. eCollection 2019 Dec.

Authors

Steven Leary¹, Harry S Porterfield², Jaclyn R Kotlarek³, Benjamin W Darbro³, Alpa Sidhu³

Affiliations

¹ Carver College of Medicine University of Iowa Hospitals and Clinics Iowa City IA USA.
² Department of Pathology University of Iowa Hospitals and Clinics Iowa City IA USA.
³ Division of Medical Genetics and Genomics The Stead Family Department of Pediatrics University of Iowa Hospitals and Clinics Iowa City IA USA.

Abstract

This report highlights the clinical features seen in duplication of 8q22.1q23.1 inherited from balanced father. It stresses the importance of obtaining a karyotype to identify the location of a large copy number variant for accurate recurrence risk estimation.

Keywords: genetics.

Publication types

Case Reports

Grants and funding

WT_/Wellcome Trust/United Kingdom